Journal of Medical Genetics, 0022-2593

Tidskrift

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  1. 2020
  2. Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations

    Hildur Helgadottir, Paola Ghiorzo, Remco van Doorn, Susana Puig, Max Levin, Richard Kefford, Martin Lauss, Paola Queirolo, Lorenza Pastorino, Ellen Kapiteijn, Miriam Potrony, Cristina Carrera, Håkan Olsson, Veronica Höiom & Göran Jönsson, 2020, I : Journal of Medical Genetics. 57, 5, s. 316-321

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 2019
  4. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: An ENIGMA report

    Irene Lopez-Perolio, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F. Pearson, Laurent Castéra, Alexandra Martins, Dominique Vaur, Nicolas Goardon, Grégoire Davy, Pilar Garre, Vanesa García-Barberán, Patricia Llovet, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Kathleen S. Hruska, Vickie Hsuan, Sitao Wu, Tina Pesaran & 14 andra, Rachid Karam, Johan Vallon-Christersson, Ake Borg, Kconfab Investigators, Alberto Valenzuela-Palomo, Eladio Andrés Velasco, Melissa Southey, Maaike P.G. Vreeswijk, Peter Devilee, Anders Kvist, Amanda B. Spurdle, Logan C. Walker, Sophie Krieger & Miguel De La Hoya, 2019, I : Journal of Medical Genetics. 56, 7, s. 453-460

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: Results from the prospective TEDDY study

    Andreas Beyerlein, Ezio Bonifacio, Kendra Vehik, Markus Hippich, Christiane Winkler, Brigitte I. Frohnert, Andrea K. Steck, William A. Hagopian, Jeffrey P. Krischer, Åke Lernmark, Marian J. Rewers, Jin Xiong She, Jorma Toppari, Beena Akolkar, Stephen S. Rich, Anette G. Ziegler & TEDDY Study Group TEDDY Study Group, 2019, I : Journal of Medical Genetics. 56, 9, s. 602-605

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 2018
  7. CM-Score: A validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

    Thomas P. Potjer, Hildur Helgadottir, Mirjam Leenheer, Nienke Van Der Stoep, Nelleke A. Gruis, Veronica Höiom, Håkan Olsson, Remco Van Doorn, Hans F.A. Vasen, Christi J. Van Asperen, Olaf M. Dekkers & Frederik J. Hes, 2018, I : Journal of Medical Genetics. 55, 10, s. 661-668 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

    Setareh Moghadasi, Huong D. Meeks, Maaike P G Vreeswijk, Linda A.M. Janssen, Åke Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig, Norbert Arnold, Thomas Van Overeem Hansen, Mads Thomassen, Uffe Birk Jensen, Torben A Kruse, Bent Ejlertsen, Anne-Marie Gerdes, Inge Søkilde Pedersen, Sandrine M. Caputo, Fergus Couch & 20 andra, Emily J. Hallberg, Ans M W van den Ouweland, J Margriet Collée, Erik Teugels, Muriel A Adank, Rob B van der Luijt, Arjen R. Mensenkamp, Jan C. Oosterwijk, Marinus J. Blok, Nicolas Janin, Kathleen B M Claes, Kathy Tucker, Valeria Viassolo, Amanda Ewart Toland, Diana E. Eccles, Peter Devilee, Christie J. Van Asperen, Amanda B Spurdle, David E Goldgar & Encarna Gómez García, 2018, I : Journal of Medical Genetics. 55, 1, s. 15-20

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. 2017
  10. Common cancers share familial susceptibility: Implications for cancer genetics and counselling

    Hongyao Yu, Christoph Frank, Jan Sundquist, Akseli Hemminki & Kari Hemminki, 2017, I : Journal of Medical Genetics. 54, s. 248-253

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. 2014
  12. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

    Anne Thorwarth, Sarah Schnittert-Huebener, Pamela Schrumpf, Ines Mueller, Sabine Jyrch, Christof Dame, Heike Biebermann, Gunnar Kleinau, Juri Katchanov, Markus Schuelke, Grit Ebert, Anne Steininger, Carsten Boennemann, Knut Brockmann, Hans-Juergen Christen, Patricia Crock, Francis deZegher, Matthias Griese, Jacqueline Hewitt, Sten Ivarsson & 9 andra, Christoph Huebner, Klaus Kapelari, Barbara Plecko, Dietz Rating, Iva Stoeva, Hans-Hilger Ropers, Annette Grueters, Reinhard Ullmann & Heiko Krude, 2014, I : Journal of Medical Genetics. 51, 6, s. 375-387

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.

    Hildur Helgadottir, Veronica Höiom, Göran B Jönsson, Rainer Tuominen, Christian Ingvar, Åke Borg, Håkan Olsson & Johan Hansson, 2014, I : Journal of Medical Genetics. 51, 8, s. 545-552 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. 2013
  15. Risk of thyroid cancer in first-degree relatives of patients with non-medullary thyroid cancer by histology type and age at diagnosis: a joint study from five Nordic countries

    Mahdi Fallah, Eero Pukkala, Laufey Tryggvadottir, Jorgen H. Olsen, Steinar Tretli, Kristina Sundquist & Kari Hemminki, 2013, I : Journal of Medical Genetics. 50, 6, s. 373-382

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. 2012
  17. A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation

    Marlene D. Dalgaard, Nils Weinhold, Daniel Edsgard, Jeremy D. Silver, Tune H. Pers, John E. Nielsen, Niels Jorgensen, Anders Juul, Thomas A. Gerds, Aleksander Giwercman, Yvonne Giwercman, Gabriella Cohn-Cedermark, Helena E. Virtanen, Jorma Toppari, Gedske Daugaard, Thomas S. Jensen, Soren Brunak, Ewa Rajpert-De Meyts, Niels E. Skakkebk, Henrik Leffers & 1 andra, Ramneek Gupta, 2012, I : Journal of Medical Genetics. 49, 1, s. 58-65

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

    Amanda B. Spurdle, Phillip J. Whiley, Bryony Thompson, Bingjian Feng, Sue Healey, Melissa A. Brown, Christopher Pettigrew, Christi J. Van Asperen, Margreet G. E. M. Ausems, Anna A. Kattentidt-Mouravieva, Ans M. W. van den Ouweland, Annika Lindblom, Maritta H. Pigg, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Sandrine Caputo, Olga M. Sinilnikova, Rosette Lidereau, Fergus J. Couch & 13 andra, Lucia Guidugli, Thomas van Overeem Hansen, Mads Thomassen, Diana M. Eccles, Kathy Tucker, Javier Benitez, Susan M. Domchek, Amanda E. Toland, Elizabeth J. Van Rensburg, Barbara Wappenschmidt, Åke Borg, Maaike P. G. Vreeswijk & David E. Goldgar, 2012, I : Journal of Medical Genetics. 49, 8, s. 525-532

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. Prostate cancer risk assessment model: a scoring model based on the Swedish Family-Cancer Database

    Hassan Roudgari, Kari Hemminki, Andreas Brandt, Jan Sundquist & Mahdi Fallah, 2012, I : Journal of Medical Genetics. 49, 5, s. 345-352

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  20. 2008
  21. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

    M Clendenning, L Senter, H Hampel, K Lagerstedt Robinson, S Sun, D Buchanan, M D Walsh, Mef Nilbert, J Green, J Potter, A Lindblom & A de la Chapelle, 2008, I : Journal of Medical Genetics. 45, 6, s. 340-345

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

    K. Osoegawa, G. M. Vessere, K. H. Utami, M. A. Mansilla, M. K. Johnson, B. M. Riley, J. L'Heureux, R. Pfundt, Johan Staaf, W. A. van der Vliet, A. C. Lidral, E. F. P. M. Schoenmakers, A. Borg, B. C. Schutte, E. J. Lammer, J. C. Murray & P. J. De Jong, 2008, I : Journal of Medical Genetics. 45, 2, s. 81-86

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. 2007
  24. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

    Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno, Donato Calista, Lisa A Cannon Albright, Valerie Chaudru, Agnes Chompret, Francisco Cuellar, David E Elder, Paola Ghiorzo, Elizabeth M Gillanders, Nelleke A Gruis, Johan Hansson & 20 andra, David Hogg, Elizabeth A Holland, Peter A Kanetsky, Richard F Kefford, Maria Teresa Landi, Julie Lang, Sancy A Leachman, Rona M MacKie, Veronica Magnusson, Graham J Mann, Julia Newton Bishop, Jane M Palmer, Susana Puig, Joan A Puig-Butille, Mitchell Stark, Hensin Tsao, Margaret A Tucker, Linda Whitaker, Emanuel Yakobson & The Lund Melanoma Study Group23 and the Melanoma Genetics Consortium (GenoMEL), 2007, I : Journal of Medical Genetics. 44, 2, s. 99-106

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. Germline E-cadherin mutations in familial lobular breast cancer

    S. Masciari, Nina Larsson, J. Senz, N. Boyd, P. Kaurah, M. J. Kandel, L. N. Harris, H. C. Pinheiro, A. Troussard, P. Miron, N. Tung, C. Oliveira, L. Collins, S. Schnitt, J. E. Garber & D. Huntsman, 2007, I : Journal of Medical Genetics. 44, 11, s. 726-731

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. 2006
  27. Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies

    S. -M. Karppinen, R. B. Barkardottir, Katja Harbst, T. Sydenham, K. Syrjakoski, J. Schleutker, T. Ikonen, K. Pylkas, K. Rapakko, H. Erkko, G. Johannesdottir, A. -M. Gerdes, M. Thomassen, B. A. Agnarsson, M. Grip, A. Kallioniemi, J. Kere, L. A. Aaltonen, A. Arason, P. Moller & 3 andra, T. A. Kruse, Åke Borg & R. Winqvist, 2006, I : Journal of Medical Genetics. 43, 11, s. 856-862

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. 2005
  29. Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone

    O M E Albagha, U Pettersson, A Stewart, F E A McGuigan, H M MacDonald, D M Reid & S H Ralston, 2005 mar, I : Journal of Medical Genetics. 42, 3, s. 240-6 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. A male-specific quantitative trait locus on 1p21 controlling human stature

    S Sammalisto, T Hiekkalinna, E Suviolahti, K Sood, A Metzidis, P Pajukanta, H E Lilja, A Soro-Paavonen, M R Taskinen, T Tuomi, Peter Almgren, Marju Orho-Melander, Leif Groop, L Peltonen & M Perola, 2005, I : Journal of Medical Genetics. 42, 12, s. 932-939

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

    A C Antoniou, P D P Pharoah, S Narod, H A Risch, J E Eyfjord, J L Hopper, Håkan Olsson, O Johannsson, Åke Borg, B Pasini, P Radice, S Manoukian, D M Eccles, N Tang, E Olah, H Anton-Culver, E Warner, J Lubinski, J Gronwald, B Gorski & 12 andra, H Tulinius, S Thorlacius, H Eerola, H Nevanlinna, K Syrjakoski, O P Kallioniemi, D Thompson, C Evans, J Peto, F Lalloo, D G Evans & D F Easton, 2005, I : Journal of Medical Genetics. 42, 7, s. 602-603

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. Classification of BRCA1 missense variants of unknown clinical significance

    C M Phelan, V Dapic, B Tice, R Favis, E Kwan, F Barany, S Manoukian, P Radice, R B van der Luijt, B P M van Nesselrooij, G Chenevix-Trench, T Caldes, M de La Hoya, S Lindquist, S V Tavtigian, D Goldgar, Åke Borg, S A Narod & A N A Monteiro, 2005, I : Journal of Medical Genetics. 42, 2, s. 138-146

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. 2004
  34. Familial renal cell cancer appears to have a recessive component

    K Hemminki & Xinjun Li, 2004 maj, I : Journal of Medical Genetics. 41, 5, s. e58

    Forskningsoutput: TidskriftsbidragLetter

  35. Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes

    R Bergholdt, P Ghandil, J Johannesen, OP Kristiansen, I Kockum, Holger Luthman, KS Ronningen, J Nerup, C Julier & F Pociot, 2004, I : Journal of Medical Genetics. 41, 4

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC

    F Di Fiore, F Charbonnier, C Martin, S Frerot, S Olschwang, Q Wang, C Boisson, MP Buisine, Mef Nilbert, A Lindblom & T Frebourg, 2004, I : Journal of Medical Genetics. 41, 1, s. 18-20

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. 2002
  38. Genome screening of coeliac disease

    S Popat, S Bevan, C P Braegger, A Busch, D O'Donoghue, K Falth-Magnusson, A Godkin, L Hogberg, G Holmes, KB Hosie, PD Howdle, H Jenkins, D Jewell, S Johnston, N P Kennedy, P Kumar, R F A Logan, A H G Love, M N Marsh, C J Mulder & 4 andra, Klas Sjöberg, L Stenhammar, J Walker-Smith & R S Houlston, 2002, I : Journal of Medical Genetics. 39, 5, s. 328-331

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. 2001
  40. BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age

    J.T. Bergthorsson, B. Ejlertsen, J.H. Olsen, Åke Borg, K.V. Nielsen, R.B. Barkardottir, S. Klausen, H.T. Mouridsen, K. Winther, K. Fenger, A. Niebuhr, T.L. Harboe & E. Niebuhr, 2001, I : Journal of Medical Genetics. 38, 6, s. 361-368

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift